Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BROWN-VIALETTO-VAN LAERE SYNDROME 211530 |
R-numbers: R78 Signed-off version 3.66 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fazio-Londe disease, dHMN, Brown-Vialetto-Van Laere syndrome 1 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brown-Vialetto-Van Laere syndrome 1 211530, Fazio-Londe disease 211500 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 |
Green in Paediatric motor neuronopathiesComponent of the following Super Panels:
Signed-off version 3.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 |